TY  - GEN
AU  - Lenski,Claus
AU  - Abidi,Fatima
AU  - Meindl,Alfons
AU  - Gibson,Alice
AU  - Platzer,Matthias
AU  - Frank Kooy,R
AU  - Lubs,Herbert A
AU  - Stevenson,Roger E
AU  - Ramser,Juliane
AU  - Schwartz,Charles E
TI  - Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly
SN  - 0002-9297
PY  - 2004///0510
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - Carrier Proteins
KW  - DNA-Binding Proteins
KW  - Female
KW  - Genetic Diseases, X-Linked
KW  - Humans
KW  - Intellectual Disability
KW  - complications
KW  - Male
KW  - Microcephaly
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Nuclear Proteins
KW  - chemistry
KW  - Pedigree
KW  - Syndrome
N1  - Publication Type: Letter; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1086/383205
ER  -